Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Lohner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Nat Neurosci 19:1194-6 (2016)
DOI:10.1038/nn.4352

Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Clin Genet 93:1172-1178 (2018)
DOI:10.1111/cge.13243